Gjc1 gap junction protein, gamma 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjc1provided by MGI
Official Full Name: gap junction protein, gamma 1provided by MGI
Primary source: MGI:MGI:95718
See related: Ensembl:ENSMUSG00000034520 AllianceGenome:MGI:95718
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cx45; Cxnq; Gja7; Cnx45; Gja-7; C130009G16Rik
Summary: Enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling and monoatomic ion channel activity. Involved in AV node cell to bundle of His cell communication by electrical coupling and gap junction assembly. Acts upstream of or within several processes, including chemical synaptic transmission; circulatory system development; and visual perception. Located in gap junction. Part of connexin complex. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and heart. Orthologous to human GJC1 (gap junction protein gamma 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in CNS E11.5 (RPKM 15.7), limb E14.5 (RPKM 10.7) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E1; 11 66.48 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (102690303..102710512, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (102799477..102819686, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Connexin-45 is expressed in mouse lymphatic endothelium and required for lymphatic valve function.
Title: Connexin-45 is expressed in mouse lymphatic endothelium and required for lymphatic valve function.
Connexin45 colocalization patterns in the plexiform layers of the developing mouse retina.
Title: Connexin45 colocalization patterns in the plexiform layers of the developing mouse retina.
Effects of Elevated Downstream Pressure and the Role of Smooth Muscle Cell Coupling through Connexin45 on Lymphatic Pacemaking.
Title: Effects of Elevated Downstream Pressure and the Role of Smooth Muscle Cell Coupling through Connexin45 on Lymphatic Pacemaking.
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation.
Title: Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation.
Cx45 is the connexin isoform mediating the entrainment of the contraction waves in lymphatic vessels.
Title: Mechanisms of Connexin-Related Lymphedema.
the levels of mRNAs encoding Connexin43 or Connexin45 were not or were only marginally affected, respectively, by Clmp deficiency, the absence of CLMP caused a severe reduction of both proteins in smooth muscle cells of the intestine and of Connexin43 in the ureter.
Title: The IgCAM CLMP regulates expression of Connexin43 and Connexin45 in intestinal and ureteral smooth muscle contraction in mice.
Punctate labelling of Cx45 was faint in the cerebellar cortex molecular layer of wild-type mice and was increased in intensity in mice with Cx36 gene ablation. The vast majority of Cx36-puncta co-localized with Cx45-puncta, which in turn was associated with the scaffolding protein zonula occludens-1.
Title: Cx36, Cx43 and Cx45 in mouse and rat cerebellar cortex: species-specific expression, compensation in Cx36 null mice and co-localization in neurons vs. glia.
Results indicate that pre- and peri-implantation development does not require connexin43 (Cx43) and connexin45 (Cx45).
Title: Absence of connexin43 and connexin45 does not disturb pre- and peri-implantation development.
These data indicate a fine regulation of the gap junction channel make-up in function of the type and the ratio of co-expressed connexins that specifically regulates chemical and electrical coupling.
Title: Relating specific connexin co-expression ratio to connexon composition and gap junction function.
connexin45 carboxyl-terminal domain structure and interactions with molecular partners
Title: Characterization of the connexin45 carboxyl-terminal domain structure and interactions with molecular partners.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (13) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gja7 (e-PCR), detects polymorphism
- UniSTS:496770

Gja7 (e-PCR), detects polymorphism
- UniSTS:496817

Gja7 (e-PCR), detects polymorphism
- UniSTS:166618

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
enables monoatomic ion channel activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in AV node cell to bundle of His cell communication by electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-cell signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gap junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	IGI Inferred from Genetic Interaction more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in gap junction	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gap junction gamma-1 protein

Names: connexin q; connexin-45; gap junction alpha-7 protein; gap junction membrane channel protein alpha 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001159382.1 → NP_001152854.1 gap junction gamma-1 protein

See identical proteins and their annotated locations for NP_001152854.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AL929067, BC050840

Consensus CDS

CCDS25504.1

UniProtKB/Swiss-Prot

P28229

UniProtKB/TrEMBL

A0A654IER4

Related

ENSMUSP00000066901.6, ENSMUST00000068933.12

Conserved Domains (1) summary

pfam00029
Location:2 → 255

Connexin
NM_001159383.1 → NP_001152855.1 gap junction gamma-1 protein

See identical proteins and their annotated locations for NP_001152855.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AL929067, BC071230

Consensus CDS

CCDS25504.1

UniProtKB/Swiss-Prot

P28229

UniProtKB/TrEMBL

A0A654IER4

Related

ENSMUSP00000090228.5, ENSMUST00000092567.11

Conserved Domains (1) summary

pfam00029
Location:2 → 255

Connexin
NM_001359040.1 → NP_001345969.1 gap junction gamma-1 protein

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AL361625, AL929067, BC050840, BC071230, BX520052

Consensus CDS

CCDS25504.1

UniProtKB/Swiss-Prot

P28229

UniProtKB/TrEMBL

A0A654IER4

Conserved Domains (1) summary

pfam00029
Location:2 → 255

Connexin
NM_008122.3 → NP_032148.1 gap junction gamma-1 protein

See identical proteins and their annotated locations for NP_032148.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same protein.

Source sequence(s)

AL929067

Consensus CDS

CCDS25504.1

UniProtKB/Swiss-Prot

P28229

UniProtKB/TrEMBL

A0A654IER4

Related

ENSMUSP00000102690.3, ENSMUST00000107075.9

Conserved Domains (1) summary

pfam00029
Location:2 → 255

Connexin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

102690303..102710512 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248736.3 → XP_011247038.1 gap junction gamma-1 protein isoform X1

See identical proteins and their annotated locations for XP_011247038.1

UniProtKB/Swiss-Prot

P28229

UniProtKB/TrEMBL

A0A654IER4

Conserved Domains (1) summary

pfam00029
Location:2 → 255

Connexin
XM_030245572.2 → XP_030101432.1 gap junction gamma-1 protein isoform X1

UniProtKB/Swiss-Prot

P28229

UniProtKB/TrEMBL

A0A654IER4

Conserved Domains (1) summary

pfam00029
Location:2 → 255

Connexin
XM_006532227.5 → XP_006532290.1 gap junction gamma-1 protein isoform X1

See identical proteins and their annotated locations for XP_006532290.1

UniProtKB/Swiss-Prot

P28229

UniProtKB/TrEMBL

A0A654IER4

Conserved Domains (1) summary

pfam00029
Location:2 → 255

Connexin
XM_030245573.2 → XP_030101433.1 gap junction gamma-1 protein isoform X1

UniProtKB/Swiss-Prot

P28229

UniProtKB/TrEMBL

A0A654IER4

Conserved Domains (1) summary

pfam00029
Location:2 → 255

Connexin